HAE
MCID: HRD002
MIFTS: 62

Hereditary Angioedema (HAE)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Angioedema

MalaCards integrated aliases for Hereditary Angioedema:

Name: Hereditary Angioedema 12 76 53 25 59 37 6 15
Hereditary Angioneurotic Edema 12 53 25 59 29 6
Hereditary Angioedema Type 1 53 29 6
Hane 12 53 25
Hae 53 25 59
Angioedemas, Hereditary 44 73
Angioedema, Hereditary 53 55
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 73
Hereditary Non Histamine-Induced Angioedema 59
Hereditary Bradykinine-Induced Angioedema 59
Hereditary Angioedema Types I and Ii 73
Deficiency of C1 Esterase Inhibitor 53
C1 Esterase Inhibitor Deficiency 25
Angioedema, Hereditary, Type 1 40
Familial Angioneurotic Edema 59
C1 Inhibitor Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
hereditary angioedema
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:14735
MeSH 44 D054179
NCIt 50 C84758
SNOMED-CT 68 82966003
Orphanet 59 ORPHA91378
ICD10 via Orphanet 34 D84.1
UMLS via Orphanet 74 C0019243
KEGG 37 H01006

Summaries for Hereditary Angioedema

NIH Rare Diseases : 53 Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes. The age at which attacks begin varies, but most people have their first one in childhood or adolescence. The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of the body:Skin - the most common sites are the face (such as the lips and eyes), hands, arms, legs, genitals, and buttocks. Skin swelling can cause pain, dysfunction, and disfigurement, although it is generally not dangerous and is temporary. Gastrointestinal tract - the stomach, intestines, bladder, and/or urethra may be involved. This may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. Upper airway (such as the larynx and tongue) - this can cause upper airway obstruction and may be life-threatening. The majority of attacks affecting the airway resolve before complete airway obstruction. Attacks may involve one area of the body at a time, or they may involve a combination of areas. They always go away on their own but last from 2 to 4 days. While people with HAE have reported various triggers of attacks, emotional stress, physical stress, and dental procedures are the most commonly reported triggers. There are several types of HAE. Types I and II are caused by mutations in the C1NH gene (also called the SERPING1 gene), which provides instructions for making the C1 inhibitor protein. Type I is due to deficiency of C1 inhibitor, and type II is due to dysfunction of C1 inhibitor. These types are also characterized by abnormal complement protein levels. Inheritance of types I and II is autosomal dominant, but not all people with a SERPING1 gene mutation will develop symptoms of HAE. A third type is called HAE with normal C1 inhibitor. This type is characterized by normal C1 inhibitor and normal complement protein levels, and usually begins in adulthood. While some cases of type III are due to mutations in the F12 gene, in other cases the cause is not yet known. The inheritance of this form is also thought to be autosomal dominant. Management of HAE involves treatment of sudden (acute) attacks and preventing attacks (prophylaxis). Treatment for acute attacks in types I and II includes replacement with C1 inhibitor concentrates, a kallikrein inhibitor, or fresh-frozen plasma (by infusion). Sudden attacks involving the upper airway may involve intubation if stridor or signs of respiratory distress are present. HAE with normal C1 inhibitor levels is treated similarly, however C1 inhibitor infusion is not effective. Prophylaxis may involve regular injections of C1 inhibitor concentrates, long-term androgen (male hormone) therapy, or antifibrinolytics. The long-term outlook varies depending on the frequency and location of attacks, and the severity of attacks in each person. Attacks generally continue throughout life, but the frequency of attacks can be significantly reduced with therapy.

MalaCards based summary : Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type i and c1 inhibitor deficiency, and has symptoms including vomiting, abdominal pain and diarrhea. An important gene associated with Hereditary Angioedema is F12 (Coagulation Factor XII), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are ascites and abdominal pain

Genetics Home Reference : 25 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia : 76 Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The... more...

Related Diseases for Hereditary Angioedema

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type i 33.7 F12 SERPING1
2 c1 inhibitor deficiency 32.0 BDKRB2 C1S KLKB1 KNG1 SERPING1
3 angioedema 30.9 ACE BDKRB2 C1S F12 KLKB1 KNG1
4 acquired angioedema 30.6 C1S SERPING1
5 urticaria 30.4 C1S F12 SERPING1
6 allergic urticaria 30.0 KNG1 SERPING1
7 melkersson-rosenthal syndrome 29.8 ACE SERPING1
8 angioedema, hereditary, type iii 12.3
9 angioedema induced by ace inhibitors 11.3
10 frasier syndrome 11.1
11 complement component 4, partial deficiency of 10.8
12 pancreatitis 10.3
13 vasculitis 10.2
14 pseudomembranous conjunctivitis 10.2 PLG SERPING1
15 acute pancreatitis 10.2
16 lupus erythematosus 10.2
17 intracranial embolism 10.2 F12 PLG
18 anxiety 10.1
19 lemierre's syndrome 10.1 KNG1 PLG
20 lymphoma 10.1
21 hydrops, lactic acidosis, and sideroblastic anemia 10.1 C1S KNG1 SERPING1
22 drug-induced lupus erythematosus 10.1 F12 KLKB1
23 lymphoproliferative syndrome 10.1
24 arthritis 10.1
25 compartment syndrome 10.1
26 leukemia, chronic lymphocytic 2 10.1
27 leukemia, chronic lymphocytic 10.1
28 myelofibrosis 10.1
29 leukemia 10.1
30 splenic marginal zone lymphoma 10.1
31 angioimmunoblastic t-cell lymphoma 10.1
32 lymphocytic leukemia 10.1
33 leukemia, b-cell, chronic 10.1
34 progressive relapsing multiple sclerosis 10.1 MASP1 MASP2
35 occlusion precerebral artery 10.1 KLKB1 PLG
36 acute anterolateral myocardial infarction 10.1 ACE PLG
37 coproporphyria, hereditary 10.1
38 aging 10.1
39 charcot-marie-tooth disease 10.1
40 lymphedema 10.1
41 hereditary lymphedema 10.1
42 tooth disease 10.1
43 leiomyoma 10.1
44 cystitis 10.1
45 spondylarthropathy 10.1
46 3mc syndrome 10.0 MASP1 MASP2
47 immunodeficiency due to a classical component pathway complement deficiency 10.0 C1S C4B
48 intermediate coronary syndrome 10.0 ACE PLG
49 thrombophilia due to thrombin defect 10.0
50 thrombosis 10.0

Graphical network of the top 20 diseases related to Hereditary Angioedema:



Diseases related to Hereditary Angioedema

Symptoms & Phenotypes for Hereditary Angioedema

Human phenotypes related to Hereditary Angioedema:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
2 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
3 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
4 angioedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100665
5 facial edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000282
6 intestinal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0005225
7 laryngeal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0012027
8 edema 59 Very frequent (99-80%)

UMLS symptoms related to Hereditary Angioedema:


vomiting, abdominal pain, diarrhea

MGI Mouse Phenotypes related to Hereditary Angioedema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 ACE BDKRB2 C4B KLKB1 MASP2 PLG

Drugs & Therapeutics for Hereditary Angioedema

Drugs for Hereditary Angioedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
7 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Vasodilator Agents Phase 4,Phase 3,Phase 1
9 Analgesics Phase 4,Phase 3,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
11 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
16 Antirheumatic Agents Phase 4,Phase 3,Phase 1
17 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
19 Kininogens Phase 4,Phase 3,Phase 1
20 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
22 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
23 Immunoglobulins Phase 4,Phase 2,Phase 1
24 Antibodies Phase 4,Phase 2,Phase 1
25 Anti-Allergic Agents Phase 4
26 Anti-Asthmatic Agents Phase 4
27 Respiratory System Agents Phase 4
28 Immunoglobulins, Intravenous Phase 4
29 gamma-Globulins Phase 4
30 Rho(D) Immune Globulin Phase 4
31 tannic acid Approved Phase 3
32
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
33
Tranexamic Acid Approved Phase 3 1197-18-8 5526
34 Pharmaceutical Solutions Phase 3,Phase 2
35 Antifibrinolytic Agents Phase 3
36 Coagulants Phase 3,Phase 2
37 Fibrinolytic Agents Phase 3,Not Applicable
38 Hemostatics Phase 3
39 Plasma Kallikrein Phase 3,Phase 2,Phase 1
40 Kallikreins Phase 3,Phase 2,Phase 1
41 Passionflower Phase 3
42
Danazol Approved Phase 2 17230-88-5 28417
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
44 Hormones Phase 2,Phase 1
45 Hormone Antagonists Phase 2,Phase 1
46 Estrogen Antagonists Phase 2
47 Estrogens Phase 2
48 Estrogen Receptor Antagonists Phase 2
49 Estrogen Receptor Modulators Phase 2
50 Antibodies, Monoclonal Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
2 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
3 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
4 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 A Study to Evaluate the Benefit of RUCONEST® in Subjects With CVID Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
7 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
8 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
9 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
10 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
11 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
12 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
13 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
14 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
15 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
16 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
17 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
18 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
19 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
20 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
21 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
22 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
23 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
24 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
25 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
26 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
27 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
28 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
29 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
30 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
31 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
32 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
33 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
34 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
35 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
36 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
37 Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
38 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
39 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
40 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
41 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
42 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
43 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
44 Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) Patients Completed NCT01359969 Phase 2 rhC1INH
45 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
46 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
47 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
48 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
49 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
50 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2

Search NIH Clinical Center for Hereditary Angioedema

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Genetic tests related to Hereditary Angioedema:

# Genetic test Affiliating Genes
1 Hereditary Angioedema Type 1 29 SERPING1
2 Hereditary Angioneurotic Edema 29

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

41
Skin, Tongue, Eye, Endothelial, Heart, Testes, B Cells

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 1160)
# Title Authors Year
1
Training patients for self-administration of a new subcutaneous C1-inhibitor concentrate for hereditary angioedema. ( 30534402 )
2019
2
Health-Related Quality-of-Life with Subcutaneous C1-inhibitor for Prevention of Attacks of Hereditary Angioedema. ( 29391286 )
2018
3
Efficacy of C1Inhibitor concentrate in hereditary angioedema with C1Inhibitor deficiency: analysis in the French Cohort. ( 29964227 )
2018
4
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
5
Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease. ( 29423395 )
2018
6
Canadian Physician Survey on the Medical Management of Hereditary Angioedema. ( 29958877 )
2018
7
A transcriptomics study of hereditary angioedema attacks. ( 29729940 )
2018
8
Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema. ( 29866145 )
2018
9
Evaluating satisfaction of patients with hereditary angioedema with their past and present treatments: Implications for future therapies. ( 29279063 )
2018
10
Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: The OPuS-2A study. ( 29688579 )
2018
11
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting. ( 29410040 )
2018
12
Exposure-Response Model of Subcutaneous C1-Inhibitor Concentrate to Estimate the Risk of Attacks in Patients With Hereditary Angioedema. ( 29316335 )
2018
13
Impaired Endothelial Function in Hereditary Angioedema During the Symptom-Free Period. ( 29867566 )
2018
14
Plasminogen gene mutation with normal C1Inhibitor-hereditary angioedema: Three additional French families. ( 29952006 )
2018
15
SERPING1 and F12 combined variants in a hereditary angioedema family<sup>,,a9^a9^a9^,a9^a9^a9^a9^</sup>. ( 29885370 )
2018
16
Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. ( 29439936 )
2018
17
Update on the Use of C1-Esterase Inhibitor Replacement Therapy in the Acute and Prophylactic Treatment of Hereditary Angioedema. ( 29909591 )
2018
18
Clinical Features of Hereditary Angioedema in Korean Patients: A Nationwide Multicenter Study. ( 29694969 )
2018
19
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
20
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
21
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update. ( 29318628 )
2018
22
Hereditary Angioedema, Clinical Presentation and Socio-Economic Cost of 200 French Patients. ( 29936190 )
2018
23
Investigational drugs in phase I and phase II clinical trials for hereditary angioedema. ( 29226721 )
2018
24
Improving the Management of Hereditary Angioedema. ( 29791522 )
2018
25
The Diagnosis of Hereditary Angioedema: Family Caregivers' Experiences. ( 29862835 )
2018
26
Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4. ( 29058329 )
2018
27
Hereditary angioedema: The plasma contact system out of control. ( 29920929 )
2018
28
A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor. ( 29548426 )
2018
29
Efficacy of recombinant human C1 esterase inhibitor across anatomic locations in acute hereditary angioedema attacks. ( 29954477 )
2018
30
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis. ( 29723342 )
2018
31
New Treatments for Hereditary Angioedema. ( 29357215 )
2018
32
Idiopathic Nonhistaminergic Acquired Angioedema Versus Hereditary Angioedema. ( 29715562 )
2018
33
Suffocation due to Acute Airway Edema in a Patient with Hereditary Angioedema Highlighted the Need for Urgent Improvements in Treatment Availability in Japan. ( 29709957 )
2018
34
Hereditary angioedema: the plasma contact system out of control: reply. ( 30129108 )
2018
35
Repeated attacks of type III hereditary angioedema with factor XII mutation during pregnancy. ( 30131260 )
2018
36
Severity of hereditary angioedema, prevalence, and diagnostic considerations. ( 30132643 )
2018
37
Current and emerging therapies to prevent hereditary angioedema attacks. ( 30132644 )
2018
38
Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. ( 30146609 )
2018
39
Hereditary angioedema revisited. ( 30153885 )
2018
40
Pediatricians diagnosed few patients with childhood-presented hereditary angioedema: Icatibant Outcome Survey findings. ( 30170163 )
2018
41
Management of patients with hereditary angioedema in Germany: comparison with other countries in the Icatibant Outcome Survey. ( 30176179 )
2018
42
Hereditary Angioedema from 1888 to 2018 -Progress and Problems. ( 30210137 )
2018
43
Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy. ( 30280305 )
2018
44
Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid. ( 30287627 )
2018
45
Non-Surgical Management of Colo-Colonic Intussusception in Patients with Hereditary Angioedema. ( 30301875 )
2018
46
Flow-mediated vasodilation assay indicates no endothelial dysfunction in hereditary angioedema patients with C1-inhibitor deficiency. ( 30312677 )
2018
47
Treatment patterns and healthcare resource utilization among patients with hereditary angioedema in the United States. ( 30314518 )
2018
48
Comparing Pathways of Bradykinin Formation in Whole Blood From Healthy Volunteers and Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 30333824 )
2018
49
Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1). ( 30336291 )
2018
50
Improvement in diagnostic delays over time in patients with hereditary angioedema: findings from the Icatibant Outcome Survey. ( 30338053 )
2018

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.-4T> C single nucleotide variant Benign rs1801020 GRCh37 Chromosome 5, 176836532: 176836532
2 F12 NM_000505.3(F12): c.-4T> C single nucleotide variant Benign rs1801020 GRCh38 Chromosome 5, 177409531: 177409531
3 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
4 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
5 SERPING1 NM_000062.2(SERPING1): c.352A> G (p.Thr118Ala) single nucleotide variant Likely benign rs200534715 GRCh37 Chromosome 11, 57367652: 57367652
6 SERPING1 NM_000062.2(SERPING1): c.352A> G (p.Thr118Ala) single nucleotide variant Likely benign rs200534715 GRCh38 Chromosome 11, 57600179: 57600179
7 SERPING1 NM_000062.2(SERPING1): c.686-9T> C single nucleotide variant Likely benign rs141593943 GRCh37 Chromosome 11, 57373474: 57373474
8 SERPING1 NM_000062.2(SERPING1): c.686-9T> C single nucleotide variant Likely benign rs141593943 GRCh38 Chromosome 11, 57606001: 57606001
9 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh37 Chromosome 5, 176830627: 176830627
10 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh38 Chromosome 5, 177403626: 177403626
11 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh37 Chromosome 5, 176831826: 176831826
12 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh38 Chromosome 5, 177404825: 177404825
13 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh37 Chromosome 11, 57381989: 57381989
14 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh38 Chromosome 11, 57614516: 57614516
15 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh38 Chromosome 5, 177397849: 177397849
16 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh37 Chromosome 5, 176824850: 176824850
17 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh38 Chromosome 5, 177398085: 177398085
18 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh37 Chromosome 5, 176825086: 176825086
19 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh37 Chromosome 5, 176831185: 176831185
20 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh38 Chromosome 5, 177404184: 177404184
21 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh37 Chromosome 5, 176831815: 176831815
22 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh38 Chromosome 5, 177404814: 177404814
23 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh37 Chromosome 5, 176832198: 176832198
24 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh38 Chromosome 5, 177405197: 177405197
25 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh37 Chromosome 5, 176836553: 176836553
26 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh38 Chromosome 5, 177409552: 177409552
27 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh38 Chromosome 5, 177398068: 177398068
28 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh37 Chromosome 5, 176825069: 176825069
29 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh38 Chromosome 5, 177398465: 177398465
30 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh37 Chromosome 5, 176825466: 176825466
31 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh38 Chromosome 5, 177398771: 177398771
32 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh37 Chromosome 5, 176825772: 176825772
33 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh38 Chromosome 5, 177403526: 177403526
34 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh37 Chromosome 5, 176830527: 176830527
35 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh38 Chromosome 5, 177403596: 177403596
36 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh37 Chromosome 5, 176830597: 176830597
37 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh37 Chromosome 5, 176830630: 176830630
38 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh38 Chromosome 5, 177403629: 177403629
39 F12 NM_000505.3(F12): c.1107G> C (p.Ser369=) single nucleotide variant Likely benign rs141473119 GRCh37 Chromosome 5, 176831003: 176831003
40 F12 NM_000505.3(F12): c.1107G> C (p.Ser369=) single nucleotide variant Likely benign rs141473119 GRCh38 Chromosome 5, 177404002: 177404002
41 F12 NM_000505.3(F12): c.930G> C (p.Arg310Ser) single nucleotide variant Likely benign rs77098327 GRCh37 Chromosome 5, 176831285: 176831285
42 F12 NM_000505.3(F12): c.930G> C (p.Arg310Ser) single nucleotide variant Likely benign rs77098327 GRCh38 Chromosome 5, 177404284: 177404284
43 F12 NM_000505.3(F12): c.711C> T (p.Pro237=) single nucleotide variant Benign rs17876047 GRCh37 Chromosome 5, 176831589: 176831589
44 F12 NM_000505.3(F12): c.711C> T (p.Pro237=) single nucleotide variant Benign rs17876047 GRCh38 Chromosome 5, 177404588: 177404588
45 F12 NM_000505.3(F12): c.348C> A (p.Gly116=) single nucleotide variant Likely benign rs140243617 GRCh37 Chromosome 5, 176832373: 176832373
46 F12 NM_000505.3(F12): c.348C> A (p.Gly116=) single nucleotide variant Likely benign rs140243617 GRCh38 Chromosome 5, 177405372: 177405372
47 F12 NM_000505.3(F12): c.-3G> A single nucleotide variant Likely benign rs201346142 GRCh37 Chromosome 5, 176836531: 176836531
48 F12 NM_000505.3(F12): c.-3G> A single nucleotide variant Likely benign rs201346142 GRCh38 Chromosome 5, 177409530: 177409530
49 F12; SLC34A1 NM_003052.4(SLC34A1): c.*361T> C single nucleotide variant Likely benign rs539754545 GRCh38 Chromosome 5, 177398647: 177398647
50 F12; SLC34A1 NM_003052.4(SLC34A1): c.*361T> C single nucleotide variant Likely benign rs539754545 GRCh37 Chromosome 5, 176825648: 176825648

Expression for Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for Hereditary Angioedema

Pathways related to Hereditary Angioedema according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 F12 KLKB1 KNG1 PLG SERPING1
2
Show member pathways
12.52 F12 KLKB1 KNG1 XPNPEP2
3
Show member pathways
11.97 F12 KLKB1 KNG1 PLG SERPING1
4
Show member pathways
11.87 C1S C4B MASP1 MASP2
5
Show member pathways
11.78 C1S C4B MASP1 MASP2 SERPING1
6
Show member pathways
11.58 C1S C4B MASP1 MASP2 SERPING1
7
Show member pathways
11.54 ACE BDKRB2 KNG1
8 11.49 C1S C4B SERPING1
9 11.47 BDKRB2 C1S C4B F12 KLKB1 KNG1
10 11.31 F12 KLKB1 PLG SERPING1
11 11.22 KNG1 PLG
12 11.21 F12 KLKB1
13 11.1 C1S C4B MASP1 MASP2 PLG
14 10.84 ACE PLG

GO Terms for Hereditary Angioedema

Cellular components related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ACE C4B F12 KLKB1 KNG1 MASP2
2 extracellular space GO:0005615 9.65 ACE C1S C4B F12 KLKB1 KNG1
3 blood microparticle GO:0072562 9.55 C1S C4B KNG1 PLG SERPING1
4 collagen-containing extracellular matrix GO:0062023 9.54 KNG1 PLG SERPING1
5 platelet alpha granule lumen GO:0031093 9.5 KNG1 PLG SERPING1
6 extracellular region GO:0005576 9.36 ACE C1S C4B F12 KLKB1 KNG1

Biological processes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.9 C4B MASP1 MASP2 SERPING1
2 innate immune response GO:0045087 9.88 C1S C4B F12 MASP1 MASP2 SERPING1
3 inflammatory response GO:0006954 9.84 BDKRB2 C4B KLKB1 KNG1
4 complement activation, classical pathway GO:0006958 9.78 C1S C4B MASP2 SERPING1
5 blood coagulation GO:0007596 9.77 F12 KLKB1 KNG1 PLG SERPING1
6 negative regulation of endopeptidase activity GO:0010951 9.74 C4B KNG1 SERPING1
7 complement activation GO:0006956 9.73 C1S C4B MASP1 MASP2
8 platelet degranulation GO:0002576 9.72 KNG1 PLG SERPING1
9 regulation of complement activation GO:0030449 9.7 C1S C4B SERPING1
10 blood circulation GO:0008015 9.61 BDKRB2 SERPING1
11 arachidonic acid secretion GO:0050482 9.59 ACE BDKRB2
12 regulation of vasoconstriction GO:0019229 9.58 ACE BDKRB2
13 vasodilation GO:0042311 9.58 BDKRB2 KNG1
14 zymogen activation GO:0031638 9.56 F12 KLKB1
15 fibrinolysis GO:0042730 9.56 F12 KLKB1 PLG SERPING1
16 regulation of blood coagulation GO:0030193 9.51 F12 SERPING1
17 positive regulation of fibrinolysis GO:0051919 9.5 F12 KLKB1 PLG
18 complement activation, lectin pathway GO:0001867 9.49 MASP1 MASP2
19 Factor XII activation GO:0002542 9.46 F12 KLKB1
20 blood coagulation, intrinsic pathway GO:0007597 9.46 F12 KLKB1 KNG1 SERPING1
21 hemostasis GO:0007599 9.35 F12 KLKB1 KNG1 PLG SERPING1
22 proteolysis GO:0006508 9.28 ACE C1S C4B F12 KLKB1 MASP1

Molecular functions related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.86 ACE C1S F12 KLKB1 MASP1 MASP2
2 serine-type peptidase activity GO:0008236 9.63 C1S F12 KLKB1 MASP1 MASP2 PLG
3 calcium ion binding GO:0005509 9.62 C1S F12 MASP1 MASP2
4 peptidase activity GO:0008233 9.56 ACE C1S F12 KLKB1 MASP1 MASP2
5 serine-type endopeptidase activity GO:0004252 9.17 C1S C4B F12 KLKB1 MASP1 MASP2

Sources for Hereditary Angioedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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